Duchenne muscular dystrophy
RSS feedGivinosat (Duvysat®) receives unfavourable opinion on reimbursement from the HAS in DMD
Givinostat (Duvyzat®) has had conditional European marketing authorisation since June 2025 for boys aged 6 years and older with Duchenne muscular dystrophy (DMD) who are ambulatory and also treated with corticosteroids. On 12 February 2026, the French National Authority for Health (HAS) issued an unfavourable opinion on its reimbursement by the national health insurance system … [Read more]
A first step towards the possibility of administering gene therapy in subjects already immune to AAV
American researchers in Indiana have studied ways to overcome the obstacle posed by the presence of neutralising antibodies in patients who need to undergo viral vector-mediated gene therapy: to this end, an optimised Duchenne muscular dystrophy (DMD) transgene was inserted into an AAV9 (AAV9-UFµDys1), and the injection was performed on mdx mice models of DMD, … [Read more]
Is methylprednisolone effective in treating cognitive impairment in DMD?
Chinese researchers studied the potentially positive effects of intraperitoneal corticosteroid injection in a mouse model of Duchenne muscular dystrophy (DMD): the working hypothesis was that methylprednisolone (MP) could improve the cognitive and behavioural disorders observed naturally in these diseased mice, the study included neuropsychological tests, brain tissue analysis and proteomic profiling, MP appears to have … [Read more]
Cardiac complications observed in rats treated with microdystrophin
French researchers, in collaboration with the Généthon laboratory, report the results of a study conducted on rats with Duchenne muscular dystrophy (DMD) treated with microdystrophin gene therapy: this work comes in the context of toxicity observed in some DMD patients who received microdystrophin using an AAV viral vector; a rat optimised to best mimic DMD … [Read more]
DMD: dystrophin deficiency also affects vascular cells
While vascular damage is suspected in Duchenne muscular dystrophy (DMD), recent studies show that dystrophin deficiency alters the plasticity of vascular smooth muscle cells. These results were obtained from mdx mice and vascular smooth muscle cells derived from induced pluripotent stem cells from patients with the disease. Dystrophin is highly expressed in normal smooth muscle … [Read more]
The lysosome, a potential therapeutic target in DMD
Researchers from the Institute of Myology and Généthon report pioneering work in the treatment of Duchenne muscular dystrophy (DMD): they started from the observation that the muscle fibres of DMD patients and their murine counterparts showed lysosomal abnormalities, which are also accompanied by overexpression of Galectin-3, a key protein in lysosomal function. By using trehalose, … [Read more]
Towards better reuse of patient data in DMD
A consortium bringing together patient associations, clinicians and methodologists from several countries reports on the FAIR project, which aims to better coordinate and standardise registries of patients with Duchenne muscular dystrophy (DMD): it is based on the Findable, Accessible, Interoperable and Reusable (FAIR) use of patient data, it is part of a larger ten-step project … [Read more]
The use of CAR-T cells to support gene therapy in DMD
Researchers from Généthon (Evry) used genetically modified T lymphocytes (FAP-type CAR-T) to improve gene-drug transfers via adeno-associated viruses (AAV) in gene therapy: after two injections, these CAR-T cells were found to be capable of reducing the fibrotic phenomena observed in the mouse model of Duchenne muscular dystrophy (DMD), they enable the depletion of progenitor cells … [Read more]
Neurodevelopmental disorders quantified in DMD
While the impact of Duchenne muscular dystrophy (DMD) on patients’ cognition is well known, an Italian team focused specifically on the prevalence of neurodevelopmental disorders in these patients. A retrospective analysis of the clinical characteristics and psychological assessments of 264 boys (aged six years or older) and men with DMD yielded the following results: nearly … [Read more]
A plea for neonatal screening for DMD
In a comprehensive article, American specialists analyse practices and prospects for newborn screening for Duchenne muscular dystrophy in the United States: this screening is technically feasible and is based on creatine phosphokinase (CPK) testing in the first days of life, confirmed by DMD gene testing, from August 2023, the Federal Committee responsible for proposing recommendations … [Read more]
